Varaico: Literature-Extracted Genetic Variants

Gene:ABCC12
Variant:p.R1075P
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ABCC12

NM_001393797.1:p.R1075P

Associated Papers

HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia.

O'Donohue MF et al.

Blood, 2022

35213692 (PubMed )
Supplement: 10.1182-2021011846_bloodbld2021011846-suppl1.pdf

Whole-genome sequencing reveals the evolutionary trajectory of HBV-related hepatocellular carcinoma early recurrence.

Zhou SL et al.

Signal Transduction and Targeted Therapy, 2022

35078970 (PubMed )
Supplement: 41392_2021_838_MOESM2_ESM.xlsx › Table_S3
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